ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3275+7G>A

gnomAD frequency: 0.00152  dbSNP: rs111392631
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424044 SCV000521905 likely benign not specified 2017-12-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000727464 SCV000708756 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727464 SCV001048857 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001274196 SCV003812768 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2021-10-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274196 SCV001458039 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-01-17 no assertion criteria provided clinical testing

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